Article
Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Nov 1994
Menon K P, Neufeld E F
Abstract excerpt
Mutations in the gene encoding alpha-L-iduronidase (IDUA) are the cause of Hurler syndrome. Fibroblasts from patients homozygous for nonsense IDUA alleles have much reduced mRNA detectable by Northern analysis, as has been observed in many other instances of premature translation termination. Yet...
Topics
- Alleles
- Animals
- Base Sequence
- Cell Line
- Cycloheximide
- DNA Primers
- Exons
- Fibroblasts
- Humans
- Iduronidase
- Molecular Sequence Data
- Mucopolysaccharidosis I
- Mutation
- Peptide Chain Termination, Translational
- Polymerase Chain Reaction
- Protein Biosynthesis
- RNA, Messenger